Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1973 871
C0948008 Ischemic stroke disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 1104 586
C0347959 Lactic acidemia phenotype Disease or Syndrome Abnormality of metabolism/homeostasis 12 0
C0022340 Late-Infantile Neuronal Ceroid Lipfuscinosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 15 3
C0023418 leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 1984 138
C0024115 Lung diseases group Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 630 50
C0024530 Malaria disease Infections Disease or Syndrome disease by infectious agent 658 90
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8577 1441
C0334070 Maturation defect phenotype Acquired Abnormality 43 2
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 2890 352
C0027051 Myocardial Infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1582 547
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 10153 1571
C0030193 Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom 1480 182
C0030312 Pancytopenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 182 6
C0017606 Primary angle-closure glaucoma disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 85 55
C1306459 Primary malignant neoplasm group Neoplasms Neoplastic Process disease of cellular proliferation 8221 1374
C0033860 Psoriasis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 1105 238
C4521228 Refractory Acute Lymphoblastic Leukemia disease Neoplastic Process 14 0
C0007134 Renal Cell Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1958 182
C0271183 Severe myopia disease Eye Diseases Disease or Syndrome Abnormality of the eye 142 100
C0280252 stage, colon cancer phenotype Digestive System Diseases; Neoplasms Neoplastic Process 18 2
C1285498 Vegetation disease Anatomical Abnormality 67 0
C0339510 Vitelliform Macular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 73 40
C0342482 X-linked Adrenal Hypoplasia disease Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 50 15
C1148551 X-Linked Dyskeratosis Congenita disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 13 3